Agreement of two metabolic syndrome definitions and their association with subclinical atherosclerosis: multi-ethnic study of atherosclerosis cross sectional study

Background: The metabolic syndrome (MetS) is a cluster of abnormalities that increases cardiovascular risk. Two different current clinical definitions of MetS, World Health Organization (WHO) and National Cholesterol Education Program (NCEP) Adult Treatment Panel 3 (ATPIII) may differ in association with the atherosclerotic process. We quantified the agreement between the WHO and NCEP definitions and their association with subclinical atherosclerosis in the Multi-Ethnic Study of Atherosclerosis (MESA). Methods: We analyzed 2601 Caucasian-Americans (C), 800 Chinese-Americans (Ch), 1864 African-Americans (A), and 1483 Hispanic-Americans (H) with complete data for MetS classification from the baseline of the population-based study MESA. Coronary artery calcification (CAC, Agatston score) was quantified by electron beam or helical computed tomography (CT), and intimal-medial thickness of internal and common carotid arteries (IIMT, CIMT) by B-mode ultrasound. Results: The percentage positive agreement differed by ethnicity (Men: C, 65%; Ch, 58%; B, 67%; H, 74%. Women: C, 58%; Ch, 67%; A, 69%; H, 71%; P < .001). Fasting insulin measurement added to the association of the NCEP definition with presence of CAC (P < .001) and CIMT (P < .001, men; P < .002, women), while the waist-hip ratio metric of obesity adds to the association with CIMT (P < .001, men; .003, women). The NCEP threshold for low HDL was associated with CIMT independent of the WHO definition (men, P = .035; women, P = .043). These independent associations did not differ by ethnicity. Conclusion: Metabolic risk factors that differ between the NCEP and WHO MetS definitions are useful in combination to assess the presence of subclinical atherosclerosis.     

Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency

Carnitine palmitoyltransferase 2 (CPT2) deficiency is the most common defect of mitochondrial fatty acid oxidation; three different clinical phenotypes have been described but the adult form, involving exclusively the skeletal muscle, is the most frequent. We describe herein 3 families where 4 individuals manifested with the adult form of CPT2 deficiency. CPT2 gene molecular analysis identified the homozygous R631C mutation, so far only reported in severe infantile cases. Our data evidenced that R631C mutation is not exclusively detected in the infantile form but it may be present in a wider spectrum of CPT2 phenotypes. These findings indirectly suggest that other modulators may influence clinical severity of CPT2 deficiency.     

Spinal intramedullary cavernous hemangioma

The spinal cord can be involved in a variety of disease processes. These can be congenital or acquired. An acute onset of symptoms usually allows a defined set of causes to be considered including trauma, ruptured vascular anomalies, demyelination, and myelitis. Intramedullary cavernous hemangioma of the spinal cord is a congenital or acquired vascular malformation, and one of the rare causes of hematomyelia. We present such a case, and discuss the symptoms, diagnosis, and suggested best treatment options based on a review of present day literature.     

小鼠背根神经节中三个不同的钙激活氯离子通道基因家族的表达

目的在背根神经节（dorsalrootganglion,DRG）中等大小感觉神经元中可以观察到钙激活氯离子流（ICl（Ca））。在坐骨神经损伤模型中,在大多数大中神经元上诱导出类似的氯离子流。本文旨在探讨引起这个离子流的分子基础。方法使用常规的定量RT-PCR方法检测在DRG中三个基因家族的表达,这三个基因家族都具有诱导,ICl（Ca）的特点。结果在成年小鼠的DRG中,分别显示了在正常状态和坐骨神经损伤3天后CLCA,Bestrophin和Tweety基因家族成员的转录产物。结论mBestl和Tweety2可能在损伤诱导的DRG神经元,ICl（Ca）中发挥作用。     

Localized pericardial constriction resulting in a "dumbbell" heart

We describe an unusual case of a young man presenting with calcific constrictive pericarditis. The patient had a history of restrictive cardiomyopathy and pericardial effusion during infancy and received antituberculous treatment. Investigations revealed the presence of thickened pericardium and a thickened calcific constrictive band around the atrioventricular groove posteriorly and over the infundibulum anteriorly. Intraoperatively, the band caused the heart to have a "dumbbell" appearance. A pericardiectomy was performed along with excision of the constricting band. The patient had an uneventful recovery.     

Genome-wide scans for diabetic nephropathy and albuminuria in multiethnic populations: the family investigation of nephropathy and diabetes (FIND)

The Family Investigation of Nephropathy and Diabetes (FIND) was initiated to map genes underlying susceptibility to diabetic nephropathy. A total of 11 centers participated under a single collection protocol to recruit large numbers of diabetic sibling pairs concordant and discordant for diabetic nephropathy. We report the findings from the first-phase genetic analyses in 1,227 participants from 378 pedigrees of European-American, African-American, Mexican-American, and American Indian descent recruited from eight centers. Model-free linkage analyses, using a dichotomous definition for diabetic nephropathy in 397 sibling pairs, as well as the quantitative trait urinary albumin-to-creatinine ratio (ACR), were performed using the Haseman-Elston linkage test on 404 microsatellite markers. The strongest evidence of linkage to the diabetic nephropathy trait was on chromosomes 7q21.3, 10p15.3, 14q23.1, and 18q22.3. In ACR (883 diabetic sibling pairs), the strongest linkage signals were on chromosomes 2q14.1, 7q21.1, and 15q26.3. These results confirm regions of linkage to diabetic nephropathy on chromosomes 7q, 10p, and 18q from prior reports, making it important that genes underlying these peaks be evaluated for their contribution to nephropathy susceptibility. Large family collections consisting of multiple members with diabetes and advanced nephropathy are likely to accelerate the identification of genes causing diabetic nephropathy, a life-threatening complication of diabetes.